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Oculocerebral hypopigmentation syndrome, Cross type

Disease definition

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.


Classification level: Disorder
  • Synonym(s):
    • Cross syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: E70.3
  • ICD-11: EC23.20
  • OMIM: 257800
  • UMLS: C2936910
  • MeSH: -
  • GARD: 105
  • MedDRA: -

Detailed information

General public


  • Clinical practice guidelines
  • English (2021) - J Eur Acad Dermatol Venereol
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.